Lou Gehrig's Disease: New Immune Link Uncovered

Despite furious research, the exact causes are yet to come to light. New research published in the journal Science slots a new piece into the puzzle.

Amyotrophic lateral sclerosis (ALS) is a disease that attacks the nervous system, rapidly destroying the patient's motor neurons.

The illness begins with muscle weakness; at first, symptoms are subtle, patients might stumble or slur their speech.

Gradually, the weakness worsens and moves to the muscles that control breathing, eventually leading to death.

Life expectancy is normally just 3-4 years and only 10% survive longer than a decade from diagnosis. There are 5,600 new diagnoses made in America each year but, to date, no cure is forthcoming.

In 90-95% of cases, the cause of ALS is not known. However, over recent years, a genetic component has been uncovered, with a number of mutations found to crop up in affected individuals.

Researchers, led by Dr. Robert H. Baloh of Cedars-Sinai in Los Angeles, CA, decided to look in depth at one of these genes, known as C9orf72.

The role of C9orf72 in ALS

C9orf72 was the first gene to be linked to ALS and is also known to play a role in frontotemporal dementia, another neurological disease without a cure.

A mutation in C9orf72 is known to be present in around 40% of familial cases of ALS and up to 10% of sporadic, non-familial cases. This makes the gene the most commonly found mutation in relation to ALS.

The role of C9orf72 in healthy individuals is not fully known, but it is thought to play a role in endosomal trafficking - a vital cellular mechanism responsible for the transport of molecules in and around cells.

In order to unpick the role of C9orf72 in ALS, Dr. Baloh and his team bred mice who lacked the gene in question. But, rather than the mouse developing ALS, they displayed immune system dysfunction.

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